ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.274A>G (p.Thr92Ala)

gnomAD frequency: 0.00001  dbSNP: rs766491918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325478 SCV001516471 uncertain significance Familial acute necrotizing encephalopathy 2021-02-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RANBP2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with alanine at codon 92 of the RANBP2 protein (p.Thr92Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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